SLCtables

SLCO1B1

Protein name: OATP1B1 Aliases: N/D Substrates: bile salts, organic anions Transport type: N/D Tissue and cellular expression: liver (hepatocytes) Subcellular expression: N/D Disease: statin-induced myopathy, Rotor syndrome Locus: 12p Sequence ID: NP_006437.3, NM_006446.4 Gene ID: 10599 Splice variants: N/D

SO1B1_HUMAN (UniProt)

Gene names: SLCO1B1, LST1, OATP1B1, OATP2, OATPC, SLC21A6
Protein names and data: SO1B1_HUMAN, Full=Solute carrier organic anion transporter family member 1B1, Full=Liver-specific organic anion transporter 1;Short=LST-1;Full=OATP-C;Full=Sodium-independent organic anion-transporting polypeptide 2;Short=OATP-2;Full=Solute carrier family 21 member 6; Length: 691 a.a., Mass: 76449 Da,
fasta formatted sequence
Function: Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver
Disease: (OMIM: 237450 604843) Defects in SLCO1B1 are a cause of hyperbilirubinemia, Rotor type (HBLRR) [MIM:237450]. An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal
Cellular location: Basolateral cell membrane; Multi-pass membrane protein. Note=Detected in basolateral membranes of hepatocytes
Tissue specificity: Highly expressed in liver, at the basolateral membranes of centrilobular hepatocytes. Not detected in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte

Database cross-references

UniProt: Q9Y6L6
NextBio: 40250
OMIM: 237450 604843
Ensembl: ENST00000256958
GeneCard: GC12P021058
TCDB: 2.A.60.1.5
PharmGenUCSF: SLCO1B1
Guide to Pharmacology: SLCO1B1 (1220)
SLCO family of organic anion transporting polypeptides (1220)
HGNC: HGNC:10959

Genetic variants

See also Ensembl:ENST00000256958

73 - 73 F -> L (in dbSNP:rs56101265). VAR_015070 56101265
82 - 82 V -> A (in dbSNP:rs56061388). VAR_015071 56061388
130 - 130 N -> D (in dbSNP:rs2306283). VAR_015072 2306283
151 - 151 N -> S (in dbSNP:rs2306282). VAR_057724 2306282
152 - 152 R -> K. VAR_015073
155 - 155 P -> T (decreased transport activity; dbSNP:rs11045819). VAR_015074 11045819
156 - 156 E -> G (decreased transport activity). VAR_015075
174 - 174 V -> A (decreased transport activity; dbSNP:rs4149056). VAR_015076 4149056
193 - 193 L -> R (strongly decreases expression at the plasma membrane; abolishes transport activity). VAR_015077
241 - 241 D -> N. VAR_015078
245 - 245 I -> V (in dbSNP:rs11045852). VAR_060108 11045852
353 - 353 I -> T (in dbSNP:rs55901008). VAR_015079 55901008
432 - 432 N -> D (in dbSNP:rs56387224). VAR_015080 56387224
462 - 462 D -> G. VAR_015081
488 - 488 G -> A (in dbSNP:rs59502379). VAR_015082 59502379
643 - 643 L -> F (in dbSNP:rs34671512). VAR_057725 34671512
655 - 655 D -> G (in dbSNP:rs56199088). VAR_015083 56199088
667 - 667 E -> G (in dbSNP:rs55737008). VAR_015084 55737008